Partial duplication of the PARK2 gene in a child with developmental delay and her normal mother: A second report

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 162, Issue 5, 2013, Pages 485-486

  Mariani, Milena ^a   Crosti, Francesca ^b   Redaelli, Serena ^b   Fossati, Chiara ^a   Piras, Roberta ^c,d   Biondi, Andrea ^a   Dalprà, Leda ^b   Selicorni, Angelo ^a  

^a UNIVERSITY OF MILANO BICOCCA   (Italy)

^b AO S Gerardo ^*  (Italy)

^c UNIVERSITY OF CAGLIARI   (Italy)

^d Milan Unit   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKINE RECEPTOR; CYTOKINE RECEPTOR LIKE FACTOR 1; PROTEIN; PROTEIN PARK2; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG;

ARTICLE; ASPERGER SYNDROME; BRADYCARDIA; CASE REPORT; CHROMOSOME 6; CLINICAL EVALUATION; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; CRISPONI SYNDROME; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DNA EXTRACTION; ECHOGRAPHY; ELECTROMYOGRAM; EVOKED BRAIN STEM AUDITORY RESPONSE; FAMILY HISTORY; FEMALE; FETUS MOVEMENT; GENE DELETION; GENE DUPLICATION; GENE LOCUS; GENETIC ANALYSIS; GENETIC VARIABILITY; GESTATIONAL AGE; HUMAN; INFANT; MASSETER MUSCLE; MICROGNATHIA; MOTHER; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NASOGASTRIC TUBE; NEUROIMAGING; NEUROPSYCHIATRY; NUCLEAR MAGNETIC RESONANCE IMAGING; PREMATURE LABOR; PRIORITY JOURNAL; PROTEIN DEGRADATION; SWEAT GLAND DISEASE; TEMPOROMANDIBULAR JOINT;

CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHROMOSOME DELETION; DNA COPY NUMBER VARIATIONS; GENE DUPLICATION; HUMANS; UBIQUITIN-PROTEIN LIGASES;

EID: 84879362236     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.32173     Document Type: Article

References (3)

1. Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F. 2007. Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Am J Hum Genet 80(5):971-981. Epub 2007 Mar 30.
2. Riggs ER, Church DM, Hanson K, Horner VL, Kaminsky EB, Kuhn RM, Wain KE, Williams ES, Aradhya S, Kearney HM, Ledbetter DH, South ST, Thorland EC, Martin CL. 2012. Towards an evidence-based process for the clinical interpretation of copy number variation. Clin Genet 81(5):403-412. doi: 10.1111/j.1399-0004.2011.01818.x Epub2011 Dec 13. Review.
3. Scheuerle A, Wilson K. 2011. PARK2 copy number aberrations in two children presenting with autism spectrum disorder: Further support of an association and possible evidence for a new microdeletion/microduplication syndrome. Am J Med Genet Part B 156B:413-420.